| Mutation |
Consequence |
Amino acid change |
Reference sequence |
Population |
Articles |
| c.132G>A |
|
W44X |
BF343916 |
Bolivian |
12080485 |
| c.233G>A |
|
W78X |
BF343916 |
Swedish |
12080485 |
| c.267delG |
frameshift |
|
|
French (Turkish) |
15883308 |
| c.313delG |
frameshift |
|
|
German |
15883308 |
| c.377T>G |
|
V134G |
|
Canadian, British (Sri Lankan) |
15883308 |
| c.40+3delAGG |
|
|
NM_018965.1 |
Lebanese |
18546367 |
| c.401A>G |
|
D134G |
BF343916 |
American |
12080485 |
| c.40C>T |
|
E14X |
|
German |
|
| c.482+2T>C |
splicing mutation |
|
BF343916 |
Italian |
12080485 |
| c.558G>A |
|
K186N |
BF343916 |
Norwegian |
12080485 |
| c.97C>T |
|
Q33X |
|
Italian |
12754369, 15883308 |